Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-EM-A4G1-01A-11D-A257-08 TCGA-EM-A4G1-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e39124e5-14b3-4367-8a88-186295c2e0d1 6a761d3f-ebdd-484e-b1c5-b57e4f64bd90 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 3 31 0 0 1 0 0 EFCAB1 79645 broad.mit.edu 37 8 49643125 49643125 + Missense_Mutation SNP C C T TCGA-EM-A4G1-01A-11D-A257-08 TCGA-EM-A4G1-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e39124e5-14b3-4367-8a88-186295c2e0d1 6a761d3f-ebdd-484e-b1c5-b57e4f64bd90 g.chr8:49643125C>T ENST00000433756.1 - 2 296 c.137G>A c.(136-138)cGa>cAa p.R46Q EFCAB1_ENST00000523092.1_Missense_Mutation_p.R46Q|EFCAB1_ENST00000262103.3_Missense_Mutation_p.R98Q|EFCAB1_ENST00000521002.1_Intron NM_001142857.1 NP_001136329.1 Q9HAE3 EFCB1_HUMAN EF-hand calcium binding domain 1 98 calcium ion binding endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2) 14 all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464) CAAAGATCCTCGAAGAAACAG 0.343000 4 17 0 0 1 0 0 IFITM3 10410 broad.mit.edu 37 11 320606 320606 + Missense_Mutation SNP G G T rs149004156 by1000genomes TCGA-EM-A4G1-01A-11D-A257-08 TCGA-EM-A4G1-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e39124e5-14b3-4367-8a88-186295c2e0d1 6a761d3f-ebdd-484e-b1c5-b57e4f64bd90 g.chr11:320606G>T ENST00000399808.4 - 1 444 c.208C>A c.(208-210)Ccc>Acc p.P70T IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 70 Interaction with SPP1. response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P70T(3) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGCAGCAGGGGTTCATGAAG 0.632000 4 67 0.184627 0.184627 1 1 0 SDHAP1 0 broad.mit.edu 37 3 195704020 195704020 + RNA SNP A A G rs140686188 by1000genomes TCGA-EM-A4G1-01A-11D-A257-08 TCGA-EM-A4G1-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e39124e5-14b3-4367-8a88-186295c2e0d1 6a761d3f-ebdd-484e-b1c5-b57e4f64bd90 g.chr3:195704020A>G ENST00000427841.1 - 0 1124 NR_003264.2 GTCCTTCGCGATGGGGGCGTA 0.542000 3 33 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55220347 55220347 + RNA SNP G G A TCGA-EM-A4G1-01A-11D-A257-08 TCGA-EM-A4G1-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e39124e5-14b3-4367-8a88-186295c2e0d1 6a761d3f-ebdd-484e-b1c5-b57e4f64bd90 g.chr19:55220347G>A ENST00000413439.1 + 0 523 AATGAGGAGCGGGGGAGGTCT 0.602000 2 1 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EM-A4G1-01A-11D-A257-08 TCGA-EM-A4G1-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e39124e5-14b3-4367-8a88-186295c2e0d1 6a761d3f-ebdd-484e-b1c5-b57e4f64bd90 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 36 57 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7231938 7231938 + Silent SNP C C T TCGA-EM-A4G1-01A-11D-A257-08 TCGA-EM-A4G1-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e39124e5-14b3-4367-8a88-186295c2e0d1 6a761d3f-ebdd-484e-b1c5-b57e4f64bd90 g.chr6:7231938C>T ENST00000379938.2 + 10 4143 c.3606C>T c.(3604-3606)gaC>gaT p.D1202D RREB1_ENST00000349384.6_Silent_p.D1202D|RREB1_ENST00000379933.3_Silent_p.D1202D|RREB1_ENST00000334984.6_Silent_p.D1202D NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 1202 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CAGCGGAGGACAACACTCAGG 0.617000 3 30 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-EM-A4G1-01A-11D-A257-08 TCGA-EM-A4G1-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e39124e5-14b3-4367-8a88-186295c2e0d1 6a761d3f-ebdd-484e-b1c5-b57e4f64bd90 g.chr21:11098863A>G ENST00000470054.1 - 0 62 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccagcctccaactcccccttc 0.627000 3 27 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-EM-A4G1-01A-11D-A257-08 TCGA-EM-A4G1-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e39124e5-14b3-4367-8a88-186295c2e0d1 6a761d3f-ebdd-484e-b1c5-b57e4f64bd90 g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 6 10 --- --- --- --- ZC3H15 55854 broad.mit.edu 37 2 187351145 187351145 + Frame_Shift_Del DEL C C - TCGA-EM-A4G1-01A-11D-A257-08 TCGA-EM-A4G1-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e39124e5-14b3-4367-8a88-186295c2e0d1 6a761d3f-ebdd-484e-b1c5-b57e4f64bd90 g.chr2:187351145delC ENST00000337859.6 + 1 263 c.36delC c.(34-36)agfs p.S12fs ZC3H15_ENST00000544130.1_5'UTR NM_018471.2 NP_060941.2 Q8WU90 ZC3HF_HUMAN zinc finger CCCH-type containing 15 12 cytoplasm|nucleolus|plasma membrane nucleic acid binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233) CCGGGGGCAGCAAAAAGGCGG 0.612 2 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100371476 100371477 + RNA INS - - G rs148800656 by1000genomes TCGA-EM-A4G1-01A-11D-A257-08 TCGA-EM-A4G1-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e39124e5-14b3-4367-8a88-186295c2e0d1 6a761d3f-ebdd-484e-b1c5-b57e4f64bd90 g.chr7:100371476_100371477insG ENST00000542585.1 + 0 5914 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.?(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GCTGCTCCGTTTCGGGCCTCAG 0.624 5 1 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-EM-A4G1-01A-11D-A257-08 TCGA-EM-A4G1-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e39124e5-14b3-4367-8a88-186295c2e0d1 6a761d3f-ebdd-484e-b1c5-b57e4f64bd90 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 3 5 --- --- --- --- WASH3P 0 broad.mit.edu 37 15 102516324 102516324 + RNA DEL T T - TCGA-EM-A4G1-01A-11D-A257-08 TCGA-EM-A4G1-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e39124e5-14b3-4367-8a88-186295c2e0d1 6a761d3f-ebdd-484e-b1c5-b57e4f64bd90 g.chr15:102516324delT ENST00000557932.1 + 0 1283 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TCACTCAGCCTTTTCCCTCCA 0.612 2 4 --- --- --- ---